SNP与Car2、Gpi1基因多态性的关联性研究
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国家科技攻关计划


The correlation of SNP and polymorphism of Car2 and Gpi1 genes
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The National Key Technologies R&D Program of China

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    摘要:

    [摘要] 目的 从单核苷酸多态性(single nucleotide polymorphism, SNP)水平探索小鼠生化标记基因Car2与Gpi1多态性的形成机理。方法 从DNA、cDNA和蛋白多肽3个方面分析研究Car2与Gpi1基因的多态性。结果 Car2基因DNA和cDNA中有3个SNP与Car2a/b多态性相关,分别为外显子2中的C(T)、G(C)和外显子7中的A(G);蛋白多肽中发现第38位Gln/His与Car2a/b多态性相关,对应于外显子2中的G(C)。Gpi1基因DNA中没有发现与Gpi1a/b多态性相关的SNP;cDNA水平有2个SNP与Gpi1a/b多态性相关,分别为外显子9中的T(C)和18中的A(G);蛋白多肽中发现第247位Phe/Leu与Gpi1a/b多态性相关,对应于外显子9中的T(C)。结论 Gln/His(38)、Phe/Leu(247)间的转换可能分别是近交系小鼠形成Car2a/b,Gpi1a/b多态性的原因。

    Abstract:

    [Abstract] Objective To study the mechanism of polymorphism of Car2 and Gpi1 genes at single nucleotide polymorphism (SNP) level. Methods Car2 and Gpi1 genes were analyzed based on DNA, cDNA and protein polypeptide. Results For Car2, three SNPs were observed between the two haplotypes in the genome DNA and cDNA, which were C(T), G(C) of exon 2 and A(G) of exon 7. And for the protein polypeptide the interchange of Gln/His at position 38 were detected, corresponding to G(C)of exon 2. For Gpi1, T(C) of exon 9 and A(G) of exon 18 were observed between the two haplotypes in cDNA. For the protein polypeptide Phe/Leu at position 247 was detected, corresponding to T(C) of exon 9. And none was detected in the genome DNA. Conclusion The interchanges of Gln/His at position 38 and Phe/Leu at position 247 might provide the basis for Car2a/b and Gpi1a/b haplotypes respectively.

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胡培丽,岳秉飞. SNP与Car2、Gpi1基因多态性的关联性研究[J].中国实验动物学报,2013,21(3).

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  • 收稿日期:2012-12-27
  • 最后修改日期:2013-01-17
  • 录用日期:2013-01-23
  • 在线发布日期: 2013-07-04
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